Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

DOI: 10.21037/atm.2019.06.48

Keywords: Pompe disease, enzyme replacement therapy (ERT), pulmonary function studies, novel GAA variants, genotype-phenotype correlation, six-minute walk test (6MWT), aneurysm, testicular cancer, newborn screening

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Abstract:

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